Eric Morrow, from Brown University, showed data from patients with a recently described condition termed Christianson syndrome (CS), a monogenetic X-linked disorder caused by mutations in the endosomal sodium/hydrogen exchanger 6 protein (NHE6) (Pescosolido et al., 2014). His laboratory has engineered iPSCs from peripheral blood mononuclear cells from patients with CS and their unaffected male siblings. His studies are investigating a variety of endosomal phenotypes in iPSC-derived neurons as well as cellular phenotypes related to abnormal neuronal differentiation. They are using these cellular assays as platforms to screen candidate treatments. His study emphasized several themes, including pursuing various paths to assemble control cells as well as using statistical methods on experiments on multiple mutations with different subclonal lines. Further, Morrow’s studies capitalize on his access to patient clinical assessments, a mouse model, as well as iPSCs. Combining these in vivo studies with the in vitro iPSC studies may prove to be a powerful approach.
